Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556386 | SCV000652245 | likely benign | Neonatal-onset encephalopathy with rigidity and seizures | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001574488 | SCV001801319 | likely benign | not provided | 2021-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002530201 | SCV003759465 | likely benign | Inborn genetic diseases | 2021-06-18 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Prevention |
RCV003945292 | SCV004758793 | benign | BRAT1-related condition | 2019-12-05 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |